论文部分内容阅读
骨形态发生蛋白受体2(bone morphogenetic protein receptor 2,BMPR2)基因突变对肺动脉高压(pulmonary arterial hypertension,PAH)患者右心室压力负荷的影响尚未知。研究人员通过体内功能检查联合右、左心室分子与组织学分析,对伴或不伴BMPR2突变的PAH患者的右心室功能进行评估。方法与结果:纳入原发性或家族性PAH患者95例进行基因筛选,结果示28例患者存在BMPR2突变,67例无突变。应用右心导管术和心脏核磁共振检测。虽然非携带者与突
The effect of bone morphogenetic protein receptor 2 (BMPR2) gene mutation on right ventricular pressure overload in patients with pulmonary arterial hypertension (PAH) is unknown. The researchers evaluated right ventricular function in PAH patients with and without BMPR2 mutations by combining right and left ventricular molecular and histological analyzes with in vivo functional tests. Methods and Results: A total of 95 patients with primary or familial PAH were enrolled in this study. The results showed that there were BMPR2 mutations in 28 patients and no mutations in 67 patients. Right heart catheterization and cardiac MRI were used. Although non-carriers and sudden